ABSTRACT
Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. This transporter is essentially present in hematopoietic stem cells, pancreatic beta cells and inner ear cells, explaining the clinical manifestations of the disease. Based on a multidisciplinary approach, treatment resides on lifelong thiamine oral supplementation at pharmacological doses, which reverses anemia and may delay development of diabetes. However, thiamine supplementation does not alleviate already existing hearing defects.
Subject(s)
Anemia, Megaloblastic/diagnosis , Diabetes Mellitus/diagnosis , Hearing Loss, Sensorineural/diagnosis , Membrane Transport Proteins/genetics , Thiamine Deficiency/congenital , Thiamine/therapeutic use , Anemia, Megaloblastic/physiopathology , Anemia, Megaloblastic/therapy , Diabetes Mellitus/physiopathology , Diabetes Mellitus/therapy , Diagnosis, Differential , Dietary Supplements , Hearing Loss, Sensorineural/physiopathology , Hearing Loss, Sensorineural/therapy , Humans , Mutation , Thiamine Deficiency/diagnosis , Thiamine Deficiency/physiopathology , Thiamine Deficiency/therapyABSTRACT
Delivering bad news to a patient has a major impact for patients, their relatives and caregivers. The way this information is delivered can affect the way the patient sees his disease and potentially how he adheres to its treatment. To improve this communication with the patient the service of internal medicine at the Swiss university hospital of Lausanne set up a process including the coordination between all involved caregivers, and to break the bad news in a setting including a medical and nurse partnership. It also underscores that the resident in charge of the patient remains the coordinator of delivering new information. Moreover, the service provides communication tools to the caregivers to improve the communication skills.
Subject(s)
Communication , Physician-Patient Relations , Truth Disclosure , Cooperative Behavior , Hospitals, University , Humans , Nurses/organization & administration , Physicians/organization & administration , SwitzerlandABSTRACT
How to recognize, announce and analyze incidents in internal medicine units is a daily challenge that is taught to all hospital staff. It allows suggesting useful improvements for patients, as well as for the medical department and the institution. Here is presented the assessment made in the CHUV internal medicine department one year after the beginning of the institutional procedure which promotes an open process regarding communication and risk management. The department of internal medicine underlines the importance of feedback to the reporters, ensures the staff of regular follow-up concerning the measures being taken and offers to external reporters such as general practioners the possibility of using this reporting system too.
Subject(s)
Hospital Information Systems , Medical Errors , Risk Management/methods , Communication , Hospital Departments , Humans , Internal Medicine/standardsABSTRACT
The year 2014 was rich in significant advances in all areas of internal medicine. Many of them have an impact on our daily practice and on the way we manage one problem or another. From the use of the ultrasound for the diagnosis of pneumonia to the choice of the site of venous access and the type of line, and the increasing complexity of choosing an oral anticoagulant agent, this selection offers to the readers a brief overview of the major advances. The chief residents in the Service of internal medicine of the Lausanne University hospital are pleased to share their readings.
Subject(s)
Internal Medicine/trends , Medical Staff, Hospital , Alzheimer Disease/drug therapy , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Anticoagulants/therapeutic use , Arterial Pressure/physiology , Catheterization, Central Venous , Diverticulitis/therapy , Emergency Service, Hospital , Hospitals, University , Humans , Hypertension/surgery , Idiopathic Pulmonary Fibrosis/drug therapy , Kidney/innervation , Pneumonia/diagnostic imaging , Pulmonary Embolism/diagnosis , Pyridones/therapeutic use , Shock, Septic/therapy , Sympathectomy/methods , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Ultrasonography , Venous Thromboembolism/drug therapy , Vitamin B 12 Deficiency/etiology , Vitamin E/therapeutic useABSTRACT
The all-in-one pill combination (Polypill) of several active components used in primary prevention of cardiovascular disease was a decade ago purposed to reduce the cardiovascular burden by more than 80%. This Polypill could be approved before 2013 in United States. Although controversed, it could answer to the worried situation even observed in Switzerland: the adherence to secondary prevention treatments is clearly insufficient and the cardiovascular events remain in the first row of death's causes. This abstract summarize the results from interventional studies who tried to valid this concept as well as the main stakes to be assessed on the medical side before to consider such a similar approach in Switzerland.
Subject(s)
Cardiovascular Diseases/prevention & control , Drug Combinations , Humans , Primary Prevention , Randomized Controlled Trials as TopicABSTRACT
The year 2011 was full of significant advances in all areas of medicine. Whether small or large issues, they all have an impact on daily practice in general internal medicine. For example, intravenous administration of diuretics in heart failure shows no benefit. But double dose may improve symptoms faster. Direct Xa inhibitors are emerging as alternative to anti-vitamin K. beta-blockers reduce overall mortality in COPD and do not worsen lung function significantly. Each year, the chief residents from the Department of internal medicine at the University hospital of Lausanne meet to share their readings. Twelve new therapeutic considerations of 2011 are reviewed here.
